ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830504749
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
509889
ClinVar RCV Id:
RCV000609789
RCV001342076
RCV003133397
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958786.1:p.Arg1245Gln
CA4926969
NM_201384.3:c.3734G>A